Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype with ESRD

Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in <50% of patients. We performed genome-wide analysis followed by targeted resequencing in a Turkish consanguineous multiplex family and identified a canon...

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Hauptverfasser: Taskiran, Ekim Z., Korkmaz, Emine, Gucer, Safak, Kosukcu, Can, Kaymaz, Figen, Koyunlar, Cansu, Bryda, Elizabeth C., Chaki, Moumita, Lu, Dongmei, Vadnagara, Komal, Candan, Cengiz, Topaloglu, Rezan, Schaefer, Franz, Attanasio, Massimo, Bergmann, Carsten, Ozaltin, Fatih
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Nephrology 2014
Schlagworte:
Brief Communications
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4116054/
https://ncbi.nlm.nih.gov/pubmed/24610927
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2013060646
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